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Article

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Neuromuscular disorders : NMD - 1 Feb 2014

Schreckenbach T, Schröder J M, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz J B, Weis J, Claeys K G

Abstract excerpt

Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations in ACTA1, TPM2 or TPM3. Thus far, only three cases with TPM3-related cap myopathy have been described. Here, we report on the first autosomal dominant family with cap myopathy in three-generations, caused by a novel heterozygous mutation in the alpha-tropomyosin-slow-encoding gene (TPM3;...

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Source

Identifiers

PMID: 24239060
DOI: 10.1016/j.nmd.2013.10.002

Genes

TPM3
ACTA1
TPM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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